Mutation Details for c.4296_4297insGA
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cDNA Name
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c.4296_4297insGA
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Protein Name
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p.Ser1435GlyfsX14
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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4428insGA
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Other Details
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The mutation was detected by DGGE and direct sequencing in a CAVD patient carrying [delta]F508.
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Contributors
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Dubourg C,
Jezequel P,
David V
1997-10-17
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Institute
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Laboratoire de Génétique Moléculaire
CHU Pontchaillou
Rennes, France
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Submitted Phenotype Details
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The mutation was identified in a 25 years old male, also carrying deltaF508 on the other cromosome. He is PS, has moderate respiratory symptoms and sweat chloride 80 mmol/l. He also has chronic sinusitis and obstructive azoospermia.(pers. corr. Dubourg)
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Reference
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Dubourg et al. (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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